Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs116987552
rs116987552
PYGM
1 1.000 0.080 11 64759751 stop gained G/A snv 1.5E-03 1.8E-03 0.800 1.000 25 1993 2015
dbSNP: rs144081869
rs144081869
PYGM
1 1.000 0.080 11 64750497 missense variant C/T snv 4.8E-05 5.6E-05 0.800 1.000 15 1993 2015
dbSNP: rs119103251
rs119103251
PYGM
1 1.000 0.080 11 64757826 missense variant C/T snv 1.2E-04 2.7E-04 0.730 1.000 10 1993 2013
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
1 1.000 0.080 11 64746796 missense variant A/G;T snv 1.6E-05; 8.7E-05 0.720 1.000 9 2000 2017
dbSNP: rs376581557
rs376581557
PYGM
1 1.000 0.080 11 64757859 missense variant G/A snv 1.2E-05 7.0E-06 0.710 1.000 14 1993 2002
dbSNP: rs1555134900
rs1555134900
PYGM
1 1.000 0.080 11 64753128 missense variant G/T snv 0.710 1.000 13 1993 2002
dbSNP: rs767739769
rs767739769
PYGM
1 1.000 0.080 11 64755320 stop gained G/A snv 2.8E-05 0.710 1.000 7 2001 2009
dbSNP: rs1057517145
rs1057517145
PYGM
1 1.000 0.080 11 64758696 stop gained G/C snv 2.1E-05 0.710 1.000 1 2004 2004
dbSNP: rs398124210
rs398124210
PYGM ; RASGRP2
1 1.000 0.080 11 64747274 frameshift variant T/- delins 1.2E-04 5.6E-05 0.700 1.000 14 1998 2017
dbSNP: rs1483102315
rs1483102315
PYGM
1 1.000 0.080 11 64750442 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 13 1993 2002
dbSNP: rs750195683
rs750195683
PYGM
1 1.000 0.080 11 64751620 missense variant G/A snv 1.6E-05 0.700 1.000 13 1993 2002
dbSNP: rs776680924
rs776680924
PYGM
1 1.000 0.080 11 64758514 missense variant A/G snv 4.8E-05 2.1E-05 0.700 1.000 13 1993 2002
dbSNP: rs780375860
rs780375860
PYGM
1 1.000 0.080 11 64754817 missense variant A/G snv 8.0E-06 2.1E-05 0.700 1.000 13 1993 2002
dbSNP: rs116135678
rs116135678
PYGM
1 1.000 0.080 11 64754024 missense variant G/A snv 7.1E-04 7.3E-04 0.700 1.000 5 2006 2012
dbSNP: rs119103259
rs119103259
PYGM
1 1.000 0.080 11 64751597 splice region variant C/T snv 8.0E-06 0.700 1.000 5 2003 2013
dbSNP: rs267606993
rs267606993
PYGM
1 1.000 0.080 11 64759898 start lost T/A;C;G snv 1.6E-05; 4.0E-06 0.700 1.000 5 1994 2015
dbSNP: rs398124208
rs398124208
PYGM
1 1.000 0.080 11 64753556 missense variant C/G;T snv 4.5E-06; 1.8E-05 0.700 1.000 5 2003 2012
dbSNP: rs755117847
rs755117847
PYGM
1 1.000 0.080 11 64759820 frameshift variant CA/- del 7.0E-06 0.700 1.000 5 2005 2009
dbSNP: rs116315896
rs116315896
PYGM
1 1.000 0.080 11 64757794 synonymous variant C/T snv 4.6E-03 5.2E-03 0.700 1.000 4 2009 2016
dbSNP: rs527236146
rs527236146
PYGM
1 1.000 0.080 11 64758693 stop gained G/T snv 0.700 1.000 4 2003 2008
dbSNP: rs527236147
rs527236147
PYGM
1 1.000 0.080 11 64750423 inframe deletion AAG/- delins 1.2E-05 0.700 1.000 4 1994 2014
dbSNP: rs119103255
rs119103255
PYGM
1 1.000 0.080 11 64751966 stop gained G/A snv 4.0E-05 7.0E-06 0.700 1.000 3 1998 2012
dbSNP: rs772194378
rs772194378
PYGM
1 1.000 0.080 11 64759885 frameshift variant AG/- del 0.700 1.000 3 2006 2014
dbSNP: rs786204723
rs786204723
PYGM
1 1.000 0.080 11 64758454 frameshift variant C/- delins 4.0E-06 0.700 1.000 3 2008 2012
dbSNP: rs1057516612
rs1057516612
PYGM
1 1.000 0.080 11 64752493 frameshift variant CTCC/TCA delins 0.700 1.000 2 1994 2014